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Pubblicazioni
HUMAN GENETICS
Rivista
Codice:
E078681
ISSN:
0340-6717
Dati Generali
Dati Generali
Pubblicazioni (20)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia
Articolo
A frequent EcoRI polymorphism in the bcl-2 gene
Articolo
A new complex polymorphic repeat close to HLA-A and HLA-E loci
Articolo
A unique origin for the Sicilian (deltabeta)-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis
Articolo
Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?
Articolo
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin‑remodeling genes
Articolo
Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia
Articolo
De novo unbalanced translocations have a complex history/aetiology
Articolo
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood
Articolo
Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men
Articolo
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment
Articolo
Fetal DNA detection in maternal plasma throughout gestation
Articolo
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)
Articolo
Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy
Articolo
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2
Articolo
Increased concentrations of various amino acids in schizophrenic patients. Evidence for heterozygosity effects?
Articolo
New polymorphisms and markers in the HLA class I region: relevance to the Hereditary Hemochromatosis
Articolo
Reciprocal translocations: a trap for cytogenetists?
Articolo
Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 )E 19) of the gamma chain
Articolo
Significance of the clonal and sporadic chromosome abnormalities in non-neoplastic renal tissue.
Articolo
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